ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.821A>G (p.Gln274Arg)

gnomAD frequency: 0.03767  dbSNP: rs11890468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224471 SCV000280800 benign not provided 2015-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401605 SCV000427319 benign Congenital ichthyosis of skin 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000224471 SCV001856599 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV000224471 SCV002364093 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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